After a normal pregnancy, our sweet girl Stella arrived 2 months early and spent the next two months in the newborn intensive care unit.  One year later, after a myriad of health concerns, appointments and therapies, we received the diagnosis of the RARB mutation from a full exome sequence.  While it was helpful to understand the source of Stella’s issues, the rarity of the mutation and the spectrum of possibilities leaves us with a great deal of unknown.

Stella cannot currently sit, walk, talk or eat, but she is making progress with her four-point stance and crawling. Stella’s eyes developed incompletely, so she has severe anterior chamber dysgenesis, but she has remarkably good vision given the condition.  She is incredibly good natured, curious, and determined – and she loves music and lights.  We were recently thrilled to realize Stella knows her colors, shapes and numbers 1-10; we are currently tackling the alphabet. As far as we are concerned, the sky is the limit for our girl, and she continues to write her own story. We are so grateful God gave us this beautiful girl. We look forward to connecting with other families who are sharing this experience and supporting the progress toward our ultimate goal of finding a treatment.